R282P (p.Arg282Pro) variant of SLC22A5 (O76082)
R282P (p.Arg282Pro) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R282P (p.Arg282Pro) variant details
- p.Arg282Pro
- rs386134210
- ClinGen CA360805539
- ClinVar RCV003074364
- 1000Genomes rs386134210
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)